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1.

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.

McCormick, Elizabeth M; Keller, Kierstin; Taylor, Julie P; Coffey, Alison J; Shen, Lishuang; Krotoski, Danuta; Harding, Brian; Gai, Xiaowu; Falk, Marni J; Zolkipli-Cunningham, Zarazuela; Rahman, Shamima.

Ann Neurol ; 94(4): 696-712, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37255483

2.

IUPHAR ECR review: Cancer-related anorexia-cachexia in cancer patients: Pathophysiology and treatment.

Chowdhury, Iftekhar Hossain; Rahman, Shamima; Afroze, Yeasmin Jahan; Shovah, Sharmeen Tania.

Pharmacol Res ; 203: 107129, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38461961

3.

Gene therapy for mitochondrial disorders.

Keshavan, Nandaki; Minczuk, Michal; Viscomi, Carlo; Rahman, Shamima.

J Inherit Metab Dis ; 47(1): 145-175, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-38171948

4.

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.

Mancuso, Michelangelo; Papadopoulou, Maria T; Ng, Yi Shiau; Ardissone, Anna; Bellusci, Marcello; Bertini, Enrico; Di Vito, Lidia; Evangelista, Teresinha; Fons, Carmen; Hikmat, Omar; Horvath, Rita; Klopstock, Thomas; Kornblum, Cornelia; Lamperti, Costanza; Licchetta, Laura; Molnar, Maria Judit; Varhaug, Kristin N; O'Callaghan, Mar; Pressler, Ronit M; Schiff, Manuel; Servidei, Serenella; Szabo, Nora; Gorman, Gráinne S; Cross, J Helen; Rahman, Shamima.

Eur J Neurol ; 31(7): e16275, 2024 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-38576261

5.

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

Wortmann, Saskia B; Meunier, Brigitte; Mestek-Boukhibar, Lamia; van den Broek, Florence; Maldonado, Elaina M; Clement, Emma; Weghuber, Daniel; Spenger, Johannes; Jaros, Zdenek; Taha, Fatma; Yue, Wyatt W; Heales, Simon J; Davison, James E; Mayr, Johannes A; Rahman, Shamima.

Am J Hum Genet ; 106(2): 256-263, 2020 02 06.

Artículo en Inglés | MEDLINE | ID: mdl-32004446

6.

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.

Whittle, Ella F; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carroll, Christopher J.

Genet Med ; 25(2): 100332, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36520152

7.

Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes.

Wahedi, Azizia; Soondram, Chandika; Murphy, Alan E; Skene, Nathan; Rahman, Shamima.

J Inherit Metab Dis ; 46(2): 243-260, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36502462

8.

Research priorities for mitochondrial disorders: Current landscape and patient and professional views.

Thomas, Rhys H; Hunter, Amy; Butterworth, Lyndsey; Feeney, Catherine; Graves, Tracey D; Holmes, Sarah; Hossain, Pushpa; Lowndes, Jo; Sharpe, Jenny; Upadhyaya, Sheela; Varhaug, Kristin N; Votruba, Marcela; Wheeler, Russell; Staley, Kristina; Rahman, Shamima.

J Inherit Metab Dis ; 45(4): 796-803, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35543492

9.

Biparental inheritance of mitochondrial DNA revisited.

Pagnamenta, Alistair T; Wei, Wei; Rahman, Shamima; Chinnery, Patrick F.

Nat Rev Genet ; 22(8): 477-478, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-34031572

10.

Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders.

Goldstein, Amy; Rahman, Shamima.

J Inherit Metab Dis ; 44(2): 343-357, 2021 03.

Artículo en Inglés | MEDLINE | ID: mdl-33016339

11.

An international classification of inherited metabolic disorders (ICIMD).

Ferreira, Carlos R; Rahman, Shamima; Keller, Markus; Zschocke, Johannes.

J Inherit Metab Dis ; 44(1): 164-177, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-33340416

12.

Moving towards clinical trials for mitochondrial diseases.

Pitceathly, Robert D S; Keshavan, Nandaki; Rahman, Joyeeta; Rahman, Shamima.

J Inherit Metab Dis ; 44(1): 22-41, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-32618366

13.

Cardiac valve involvement in ADAR-related type I interferonopathy.

Crow, Yanick; Keshavan, Nandaki; Barbet, Jacques Patrick; Bercu, Geanina; Bondet, Vincent; Boussard, Charlotte; Dedieu, Nathalie; Duffy, Darragh; Hully, Marie; Giardini, Alessandro; Gitiaux, Cyril; Rice, Gillian Inara; Seabra, Luis; Bader-Meunier, Brigitte; Rahman, Shamima.

J Med Genet ; 57(7): 475-478, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-31772029

14.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Keshavan, Nandaki; Abdenur, Jose; Anderson, Glenn; Assouline, Zahra; Barcia, Giulia; Bouhikbar, Lamia; Chakrapani, Anupam; Cleary, Maureen; Cohen, Marta C; Feillet, François; Fratter, Carl; Hauser, Natalie; Jacques, Tom; Lam, Amanda; McCullagh, Helen; Phadke, Rahul; Rötig, Agnès; Sharrard, Mark; Simon, Mariella; Smith, Conrad; Sommerville, Ewen W; Taylor, Robert W; Yue, Wyatt W; Rahman, Shamima.

Genet Med ; 22(1): 199-209, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31462754

15.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal Me; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, I F M; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A.

J Inherit Metab Dis ; 43(4): 726-736, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32391929

16.

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.

De Vries, Maaike C; Brown, David A; Allen, Mitchell E; Bindoff, Laurence; Gorman, Gráinne S; Karaa, Amel; Keshavan, Nandaki; Lamperti, Costanza; McFarland, Robert; Ng, Yi Shiau; O'Callaghan, Mar; Pitceathly, Robert D S; Rahman, Shamima; Russel, Frans G M; Varhaug, Kristin N; Schirris, Tom J J; Mancuso, Michelangelo.

J Inherit Metab Dis ; 43(4): 800-818, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32030781

17.

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Bertini, Enrico Silvio; Chinnery, Patrick F; Christodoulou, John; Cohen, Bruce H; Davis, Ryan L; Falk, Marni J; Fratter, Carl; Horvath, Rita; Koenig, Mary Kay; Mancuso, Michaelangelo; McCormack, Shana; McCormick, Elizabeth M; McFarland, Robert; Nesbitt, Victoria; Schiff, Manuel; Steele, Hannah; Stockler, Silvia; Sue, Carolyn; Tarnopolsky, Mark; Thorburn, David R; Vockley, Jerry; Rahman, Shamima.

J Med Genet ; 56(3): 123-130, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30683676

18.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura, Makenzie; Powell, Christopher A; Kopajtich, Robert; Alahmad, Ahmad; Al-Balool, Haya H; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L; Bertini, Enrico; Bonnen, Penelope E; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Amy; Haan, Eric; Horvath, Rita; Hughes, Joanne; Invernizzi, Federica; Lamantea, Eleonora; Lucas, Benjamin; Pinnock, Kyla-Gaye; Pujantell, Maria; Rahman, Shamima; Rebelo-Guiomar, Pedro; Santra, Saikat; Verrigni, Daniela; McFarland, Robert; Prokisch, Holger; Taylor, Robert W; Levinger, Louis; Minczuk, Michal.

Hum Mutat ; 40(10): 1731-1748, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31045291

19.

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

Horga, Alejandro; Woodward, Catherine E; Mills, Alberto; Pareés, Isabel; Hargreaves, Iain P; Brown, Ruth M; Bugiardini, Enrico; Brooks, Tony; Manole, Andreea; Remzova, Elena; Rahman, Shamima; Reilly, Mary M; Houlden, Henry; Sweeney, Mary G; Brown, Garry K; Polke, James M; Gago, Federico; Parton, Matthew J; Pitceathly, Robert D S; Hanna, Michael G.

Hum Genet ; 138(11-12): 1313-1322, 2019 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-31673819

20.

Mitochondrial medicine in the omics era.

Rahman, Joyeeta; Rahman, Shamima.

Lancet ; 391(10139): 2560-2574, 2018 06 23.

Artículo en Inglés | MEDLINE | ID: mdl-29903433

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